Alrey Alcantara is a 6 year old boy living in the Philippines. His country is comprised of 7,107 islands covering an area of 116,000 square miles. The country is divided into 17 regions and 81 provinces. The capital is Manila.
There is no screening for MSUD in this country. He and his family traveled a long, hard road before he was diagnosed at the age of 7 months. The first real sign that something was amiss came at 3 months of age when his mother noticed that he was not reacting to light. He was sent to several doctors in his province and then to a hospital in Manila where he was declared blind. Further testing revealed that, while his vision was intact, he had delayed maturation of the visual pathway. The family was advised that with time his eyesight would improve.
While this news left Alrey’s parents hopeful, his vision did not improve. Furthermore, he was clearly not meeting markers for growth and development. He had no head control, didn’t respond to voices, and didn’t smile. One night when he was 5 months old, Alrey’s mom woke up and found that he was having a seizure. She rushed him to the hospital where he underwent further testing. An MRI of the brain showed shrinkage of the white matter in the brain. Finally, Alrey was referred to the Philippine National Institute of Health in Manila where a diagnosis of MSUD was confirmed. Alrey is the first and only child to be diagnosed with MSUD in his province.
Alrey is now treated by a team which includes his pediatrician, a developmental doctor, rehabilitation doctor, dietitian, ophthalmologist, neurologist, and metabolic doctor. The family must travel 2 to 3 hours to Manila to see all but the pediatrician and rehabilitation doctor. As it is difficult for Alrey to use public transportation, they spend $60 to rent a car. In the past year they were able to make arrangements to have his blood drawn locally and sent to Manila for analysis, which has cut down a bit on the trips. Leucine levels are monitored quarterly. He has had only 1 complete amino acid test in his 6 years.
Procuring metabolic formula in the Philippines is very difficult due to government regulations as well as cost. Mead Johnson has been donating 6 cans of MSUD Diet Powder a month for each MSUD child in the country. While this is a huge help and does much to keep these kids alive, it is inadequate to fully meet their needs. If purchased, one can costs about $50 without shipping. This is clearly an overwhelming amount of money for a family with a monthly income of $180, which Alrey’s mom says approximates the average Filipino income. It is unclear how these families will obtain metabolic formula now that Mead Johnson has stopped making this product.
When Alrey is ill, he is hospitalized locally and treated by his pediatrician with phone consultations to his metabolic doctor in Manila. His leucine levels are not monitored during hospitalizations. Only in Manila will a child with MSUD have leucine levels monitored when sick. In this case, the parent must pay an extra charge of $6 to expedite the running of the test. A full amino acid profile would cost the family $150. Branched-chain amino acid-free TPN is not available.
Alrey remains developmentally delayed. He has minimal vision, and the family was told when he was 5 that he had a mental age of 15 months. He receives physical and occupational therapy every other day, and still has intermittent seizures. Doctor’s fees, laboratory analyses, and therapies are all paid for by the family. He has had to stop attending his special school and no longer undergoes speech therapy as the family cannot afford it.
There are 24 diagnosed cases of MSUD in the country. The eldest living MSUD child is 13 years old and the youngest is about 2-3 months old. Alrey’s mom, Gladys, has sought out other families in the country, and a support group was formed in August of 2006. Right now, the group is securing all necessary papers to become an affiliate of the "Philippine Society of Orphan Disorders," an organization of all rare diseases in the country.
The Alcantara family received sponsorship from our MSUD Family Support Group to travel to the 2006 Symposium, where they learned a great deal about treatment options and were thrilled to meet wonderful people. They are grateful for the support, knowledge and kindness they have received from this group, all of which enable them to give their best to their son.
MSUD in Philippines - Alrey Alcantara
- Written by Joyce Brubacher